Publications Transcription factor HNF1β controls a transcriptional network regulating kidney cell structure and tight junction integrity 22 Dec 20229 Jan 2023 Mutations in the HNF1B gene cause autosomal dominant tubulointerstitial kidney disease (ADTKD)-HNF1β, a rare and heterogenous disease characterized by renal cysts and/or malformation, maturity-onset diabetes of the young, hypomagnesemia and…
Publications HNF1β-associated cyst development and electrolyte disturbances are not explained by BAIAP2L2 expression 15 Dec 202210 Jan 2023 Mutations or deletions in transcription factor hepatocyte nuclear factor 1 homeobox β (HNF1β) cause renal cysts and/or malformation, maturity-onset diabetes of the young and electrolyte disturbances. Here, we applied a…
Publications Hypomagnesemia and Cardiovascular Risk in Type 2 Diabetes 8 Nov 20229 Jan 2023 Hypomagnesemia is tenfold more common in individuals with type 2 diabetes (T2D), compared to the healthy population. Factors that are involved in this high prevalence are low Mg2+ intake, gut…
Publications Calciprotein Particle Synthesis Strategy Determines In Vitro Calcification Potential 4 Nov 202210 Jan 2023 Circulating calciprotein particles (CPP), colloids of calcium, phosphate and proteins, were identified as potential drivers of the calcification process in chronic kidney disease. The present study compared CPP produced using…
Publications Butyrate reduces cellular magnesium absorption independently of metabolic regulation in Caco-2 human colon cells 3 Nov 202210 Jan 2023 Digestion of dietary fibers by gut bacteria has been shown to stimulate intestinal mineral absorption [e.g., calcium (Ca2+) and magnesium (Mg2+)]. Although it has been suggested that local pH and…
Publications Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome 27 Oct 20229 Jan 2023 Background - Gitelman syndrome is a salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. It is caused by homozygous recessive or compound heterozygous pathogenic variants in SLC12A3 , which encodes the Na+-Cl− cotransporter (NCC). In…
Publications SLC41A1 knockout mice display normal magnesium homeostasis 19 Oct 20229 Jan 2023 Transcellular Mg2+ reabsorption in the distal convoluted tubule (DCT) of the kidneys plays an important role in maintaining systemic Mg2+ homeostasis. SLC41A1 is a Na+/Mg2+ exchanger that mediates Mg2+ efflux from cells and is…
Publications The genetic spectrum of Gitelman(-like) syndromes 1 Sep 202210 Jan 2023 Purpose of review Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patients are explained by mutations and deletions in the SLC12A3 gene,…
Publications Magnesium increases insulin-dependent glucose uptake in adipocytes 25 Aug 202210 Jan 2023 Background: Type 2 diabetes (T2D) is characterized by a decreased insulin sensitivity. Magnesium (Mg2+) deficiency is common in people with T2D. However, the molecular consequences of low Mg2+ levels on insulin sensitivity…
Publications Structural and functional comparison of magnesium transporters throughout evolution 12 Jul 202210 Jan 2023 Magnesium (Mg2+) is the most prevalent divalent intracellular cation. As co-factor in many enzymatic reactions, Mg2+ is essential for protein synthesis, energy production, and DNA stability. Disturbances in intracellular Mg2+ concentrations, therefore,…
Publications Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification 7 Jul 202210 Jan 2023 Introduction Monogenic causes in over 300 kidney-associated genes account for approximately 12% of end stage kidney disease (ESKD) cases. Advances in sequencing and large customized panels enable the noninvasive diagnosis of monogenic…
Publications FAM111A is dispensable for electrolyte homeostasis in mice 17 Jun 202210 Jan 2023 Autosomal dominant mutations in FAM111A are causative for Kenny-Caffey syndrome type 2. Patients with Kenny-Caffey syndrome suffer from severe growth retardation, skeletal dysplasia, hypoparathyroidism, hypocalcaemia, hyperphosphataemia and hypomagnesaemia. While recent studies have…
Publications Mechanisms of proton pump inhibitor-induced hypomagnesemia 2 Jun 202210 Jan 2023 Proton pump inhibitors (PPIs) reliably suppress gastric acid secretion and are therefore the first-line treatment for gastric acid-related disorders. Hypomagnesemia (serum magnesium [Mg2+] <0.7 mmol/L) is a commonly reported side effect of…
Publications Mechanisms of ion transport regulation by HNF1β in the kidney: beyond transcriptional regulation of channels and transporters 13 May 202210 Jan 2023 Hepatocyte nuclear factor 1β (HNF1β) is a transcription factor essential for the development and function of the kidney. Mutations in and deletions of HNF1β cause autosomal dominant tubule interstitial kidney…
Publications The association between hypomagnesemia and poor glycaemic control in type 1 diabetes is limited to insulin resistant individuals 19 Apr 202210 Jan 2023 In a cohort of adults with type 1 diabetes, we examined the prevalence of hypomagnesemia and the correlation of serum magnesium levels with metabolic determinants, such as glycaemic control (as…
Kidney Physiology 